Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00970:Disp2'

26997

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Disp2

Ensembl Gene

ENSMUSG00000040035

Gene Name

dispatched RND transporter family member 2

Synonyms

B230210L08Rik, DispB

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

IGL00970

Quality Score

Status

Chromosome

Chromosomal Location

118610183-118625656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 118622274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 1002 (D1002A)

Ref Sequence

ENSEMBL: ENSMUSP00000037136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037547] [ENSMUST00000063975] [ENSMUST00000110843] [ENSMUST00000110846]

AlphaFold

Q8CIP5

Predicted Effect

probably damaging
Transcript: ENSMUST00000037547
AA Change: D1002A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: D1002A

Domain	Start	End	E-Value	Type
transmembrane domain	123	145	N/A	INTRINSIC
low complexity region	195	203	N/A	INTRINSIC
Pfam:MMPL	435	635	9.7e-8	PFAM
Pfam:Sterol-sensing	458	611	9.1e-9	PFAM
transmembrane domain	657	679	N/A	INTRINSIC
low complexity region	682	695	N/A	INTRINSIC
low complexity region	748	761	N/A	INTRINSIC
transmembrane domain	914	936	N/A	INTRINSIC
transmembrane domain	943	965	N/A	INTRINSIC
transmembrane domain	975	997	N/A	INTRINSIC
transmembrane domain	1018	1040	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000063975

SMART Domains

Protein: ENSMUSP00000070031
Gene: ENSMUSG00000040035

Domain	Start	End	E-Value	Type
transmembrane domain	123	145	N/A	INTRINSIC
low complexity region	195	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110843

SMART Domains

Protein: ENSMUSP00000106467
Gene: ENSMUSG00000040035

Domain	Start	End	E-Value	Type
transmembrane domain	123	145	N/A	INTRINSIC
low complexity region	195	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110846

SMART Domains

Protein: ENSMUSP00000106470
Gene: ENSMUSG00000040035

Domain	Start	End	E-Value	Type
transmembrane domain	123	145	N/A	INTRINSIC
low complexity region	195	203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142072

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,144,149 (GRCm39)	N910K	possibly damaging	Het
Atp8b5	A	G	4: 43,311,938 (GRCm39)	T184A	probably benign	Het
Cabp7	T	C	11: 4,688,931 (GRCm39)	I180V	probably benign	Het
Casp8ap2	A	G	4: 32,646,182 (GRCm39)	T1752A	probably benign	Het
Dgkb	T	C	12: 38,240,082 (GRCm39)	L453P	probably damaging	Het
Eif3c	G	A	7: 126,158,180 (GRCm39)	P259S	probably benign	Het
Eif4a3l1	A	G	6: 136,306,109 (GRCm39)	D169G	probably damaging	Het
Fam227b	A	T	2: 125,968,980 (GRCm39)	D31E	probably benign	Het
Farp2	T	C	1: 93,488,049 (GRCm39)	V92A	probably benign	Het
Fhod1	C	A	8: 106,058,734 (GRCm39)	V745L	possibly damaging	Het
Gprin3	T	C	6: 59,330,822 (GRCm39)	E495G	possibly damaging	Het
Grm5	T	C	7: 87,453,104 (GRCm39)	I247T	probably damaging	Het
Herc2	T	C	7: 55,830,812 (GRCm39)		probably benign	Het
Hoatz	T	A	9: 50,994,886 (GRCm39)	K148*	probably null	Het
Hspg2	C	A	4: 137,269,901 (GRCm39)	Q2311K	probably benign	Het
Krt26	T	C	11: 99,222,107 (GRCm39)	Y400C	probably benign	Het
Lct	A	T	1: 128,231,805 (GRCm39)	D681E	probably damaging	Het
Lgalsl	G	T	11: 20,776,493 (GRCm39)	P133Q	probably benign	Het
Man2b2	C	T	5: 36,973,487 (GRCm39)	W76*	probably null	Het
Mylk4	T	C	13: 32,899,905 (GRCm39)	E326G	probably damaging	Het
Odam	T	G	5: 88,034,467 (GRCm39)		probably benign	Het
Pabpc4	T	C	4: 123,180,608 (GRCm39)	I110T	probably damaging	Het
Pcdh15	A	T	10: 74,215,172 (GRCm39)	D47V	probably damaging	Het
Plekhg4	C	T	8: 106,105,067 (GRCm39)	R577C	probably benign	Het
Pnpo	C	A	11: 96,834,618 (GRCm39)	C26F	possibly damaging	Het
Polg	T	C	7: 79,101,493 (GRCm39)	I1071M	probably benign	Het
Prr23a2	A	G	9: 98,739,014 (GRCm39)	D124G	probably benign	Het
Rexo1	C	T	10: 80,386,798 (GRCm39)	V87I	probably damaging	Het
Robo2	C	A	16: 73,693,934 (GRCm39)	V1502L	probably benign	Het
Ruvbl2	A	G	7: 45,078,994 (GRCm39)	L50P	possibly damaging	Het
Ryr3	T	C	2: 112,595,021 (GRCm39)	K2534E	probably damaging	Het
Scfd2	T	C	5: 74,691,595 (GRCm39)	H229R	possibly damaging	Het
Sesn3	A	G	9: 14,232,438 (GRCm39)	D237G	probably damaging	Het
Shank1	T	C	7: 44,003,662 (GRCm39)	S1785P	possibly damaging	Het
Slc11a1	A	G	1: 74,419,821 (GRCm39)	T165A	probably damaging	Het
Star	G	A	8: 26,302,894 (GRCm39)		probably null	Het
Trpc6	A	T	9: 8,653,152 (GRCm39)	N575Y	probably damaging	Het
Unc5d	T	C	8: 29,186,456 (GRCm39)	T598A	probably benign	Het
Vmn1r200	A	T	13: 22,579,893 (GRCm39)	Q232L	probably damaging	Het
Wdr31	T	C	4: 62,375,757 (GRCm39)	T233A	probably damaging	Het
Zzef1	G	A	11: 72,806,071 (GRCm39)	R2669Q	probably benign	Het

Other mutations in Disp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Disp2	APN	2	118,616,759 (GRCm39)	missense	probably damaging	1.00
IGL01790:Disp2	APN	2	118,621,361 (GRCm39)	missense	probably damaging	1.00
IGL01809:Disp2	APN	2	118,617,745 (GRCm39)	splice site	probably benign
IGL02069:Disp2	APN	2	118,621,161 (GRCm39)	missense	possibly damaging	0.93
IGL02140:Disp2	APN	2	118,621,350 (GRCm39)	missense	probably benign
IGL02143:Disp2	APN	2	118,620,450 (GRCm39)	missense	probably damaging	1.00
IGL02155:Disp2	APN	2	118,622,285 (GRCm39)	missense	probably damaging	1.00
IGL02884:Disp2	APN	2	118,618,032 (GRCm39)	splice site	probably benign
IGL03113:Disp2	APN	2	118,621,259 (GRCm39)	splice site	probably null
IGL03194:Disp2	APN	2	118,618,110 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Disp2	UTSW	2	118,618,125 (GRCm39)	missense	probably benign	0.01
R0109:Disp2	UTSW	2	118,622,297 (GRCm39)	missense	probably damaging	1.00
R0126:Disp2	UTSW	2	118,620,819 (GRCm39)	missense	probably damaging	1.00
R0603:Disp2	UTSW	2	118,622,487 (GRCm39)	missense	probably damaging	1.00
R0610:Disp2	UTSW	2	118,622,717 (GRCm39)	missense	probably benign	0.02
R0639:Disp2	UTSW	2	118,621,325 (GRCm39)	missense	possibly damaging	0.74
R0673:Disp2	UTSW	2	118,621,325 (GRCm39)	missense	possibly damaging	0.74
R0755:Disp2	UTSW	2	118,620,243 (GRCm39)	missense	probably benign	0.00
R0781:Disp2	UTSW	2	118,620,920 (GRCm39)	missense	probably damaging	1.00
R1110:Disp2	UTSW	2	118,620,920 (GRCm39)	missense	probably damaging	1.00
R1148:Disp2	UTSW	2	118,636,899 (GRCm39)	critical splice donor site	probably null
R1148:Disp2	UTSW	2	118,636,899 (GRCm39)	critical splice donor site	probably null
R1243:Disp2	UTSW	2	118,622,303 (GRCm39)	missense	probably damaging	1.00
R1587:Disp2	UTSW	2	118,622,064 (GRCm39)	missense	probably damaging	1.00
R1739:Disp2	UTSW	2	118,622,031 (GRCm39)	missense	probably damaging	1.00
R1771:Disp2	UTSW	2	118,621,778 (GRCm39)	nonsense	probably null
R1781:Disp2	UTSW	2	118,623,042 (GRCm39)	missense	probably damaging	0.96
R1918:Disp2	UTSW	2	118,622,408 (GRCm39)	missense	probably benign
R1956:Disp2	UTSW	2	118,622,704 (GRCm39)	missense	probably benign	0.02
R2167:Disp2	UTSW	2	118,622,166 (GRCm39)	missense	probably damaging	1.00
R2206:Disp2	UTSW	2	118,622,725 (GRCm39)	missense	probably benign	0.02
R4031:Disp2	UTSW	2	118,622,361 (GRCm39)	missense	probably benign	0.27
R4617:Disp2	UTSW	2	118,620,643 (GRCm39)	missense	probably benign
R4656:Disp2	UTSW	2	118,621,044 (GRCm39)	missense	probably damaging	1.00
R4684:Disp2	UTSW	2	118,623,237 (GRCm39)	missense	probably damaging	1.00
R4696:Disp2	UTSW	2	118,622,165 (GRCm39)	nonsense	probably null
R4697:Disp2	UTSW	2	118,622,165 (GRCm39)	nonsense	probably null
R4738:Disp2	UTSW	2	118,620,807 (GRCm39)	missense	probably damaging	0.97
R4834:Disp2	UTSW	2	118,622,985 (GRCm39)	missense	probably benign	0.09
R4914:Disp2	UTSW	2	118,620,935 (GRCm39)	missense	probably damaging	0.99
R4915:Disp2	UTSW	2	118,620,935 (GRCm39)	missense	probably damaging	0.99
R4918:Disp2	UTSW	2	118,620,935 (GRCm39)	missense	probably damaging	0.99
R5045:Disp2	UTSW	2	118,622,543 (GRCm39)	missense	probably benign	0.03
R5208:Disp2	UTSW	2	118,622,286 (GRCm39)	missense	probably damaging	1.00
R5303:Disp2	UTSW	2	118,641,329 (GRCm39)	unclassified	probably benign
R5350:Disp2	UTSW	2	118,618,056 (GRCm39)	missense	probably benign	0.23
R5355:Disp2	UTSW	2	118,617,392 (GRCm39)	missense	probably benign	0.00
R6011:Disp2	UTSW	2	118,621,301 (GRCm39)	missense	possibly damaging	0.65
R6031:Disp2	UTSW	2	118,620,275 (GRCm39)	missense	probably benign	0.01
R6031:Disp2	UTSW	2	118,620,275 (GRCm39)	missense	probably benign	0.01
R6139:Disp2	UTSW	2	118,621,143 (GRCm39)	missense	probably damaging	0.97
R6169:Disp2	UTSW	2	118,622,031 (GRCm39)	missense	probably damaging	1.00
R6187:Disp2	UTSW	2	118,622,624 (GRCm39)	missense	probably damaging	1.00
R6209:Disp2	UTSW	2	118,617,402 (GRCm39)	missense	probably damaging	1.00
R6250:Disp2	UTSW	2	118,621,247 (GRCm39)	missense	probably damaging	1.00
R6392:Disp2	UTSW	2	118,621,230 (GRCm39)	missense	probably damaging	1.00
R7138:Disp2	UTSW	2	118,617,361 (GRCm39)	missense	probably benign
R7156:Disp2	UTSW	2	118,622,292 (GRCm39)	missense	probably damaging	1.00
R7230:Disp2	UTSW	2	118,622,286 (GRCm39)	missense	probably damaging	1.00
R7400:Disp2	UTSW	2	118,622,367 (GRCm39)	missense	probably damaging	1.00
R7460:Disp2	UTSW	2	118,620,261 (GRCm39)	missense	probably damaging	1.00
R7505:Disp2	UTSW	2	118,621,569 (GRCm39)	missense	probably damaging	1.00
R7542:Disp2	UTSW	2	118,621,599 (GRCm39)	missense	probably damaging	0.97
R7728:Disp2	UTSW	2	118,621,961 (GRCm39)	missense	probably benign	0.31
R7757:Disp2	UTSW	2	118,621,391 (GRCm39)	missense	probably damaging	1.00
R7798:Disp2	UTSW	2	118,622,360 (GRCm39)	missense	probably benign
R7945:Disp2	UTSW	2	118,623,270 (GRCm39)	missense	probably damaging	1.00
R8013:Disp2	UTSW	2	118,620,163 (GRCm39)	nonsense	probably null
R8085:Disp2	UTSW	2	118,617,452 (GRCm39)	missense	possibly damaging	0.94
R8179:Disp2	UTSW	2	118,623,030 (GRCm39)	missense	probably damaging	0.99
R8288:Disp2	UTSW	2	118,620,762 (GRCm39)	missense	probably damaging	1.00
R8345:Disp2	UTSW	2	118,641,284 (GRCm39)	missense	unknown
R8385:Disp2	UTSW	2	118,620,891 (GRCm39)	missense	probably damaging	1.00
R8700:Disp2	UTSW	2	118,620,340 (GRCm39)	nonsense	probably null
R8808:Disp2	UTSW	2	118,620,489 (GRCm39)	missense	probably damaging	1.00
R8880:Disp2	UTSW	2	118,621,239 (GRCm39)	missense	probably damaging	1.00
R8997:Disp2	UTSW	2	118,617,467 (GRCm39)	missense	probably damaging	1.00
R9022:Disp2	UTSW	2	118,621,179 (GRCm39)	missense	probably benign	0.22
R9181:Disp2	UTSW	2	118,617,393 (GRCm39)	missense	probably benign	0.08
R9660:Disp2	UTSW	2	118,620,627 (GRCm39)	missense	probably benign
Z1177:Disp2	UTSW	2	118,621,308 (GRCm39)	missense	probably damaging	1.00
Z1177:Disp2	UTSW	2	118,620,183 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-04-17